Article
A Comparative Biochemical and Pathological Evaluation of Brain Samples from Knock-In Murine Models of Gaucher Disease.
International journal of molecular sciences - 2 Feb 2024
Furderer Makaila L, Berhe Bahafta, Chen Tiffany C, Wincovitch Stephen, Jiang Xuntian, Tayebi Nahid, Sidransky Ellen, Han Tae-Un
Abstract excerpt
Gaucher disease (GD) is a lysosomal storage disorder stemming from biallelic mutations in GBA1, characterized by glucocerebrosidase dysfunction and glucocerebroside and glucosylsphingosine accumulation. Since phenotypes of murine models of GD often differ from those in patients, the careful characterization of Gba1 mutant mice is necessary to establish their ability to model GD. We performed side-by-side...
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